Rare Disease Podcasts

Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays, insurance battles for basic needs, and constant caregiving without real support. But what if there was a better way? In this episode, I’m joined by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys with Combined oxidative phosphorylation deficiency type 13 associated with a mutation in the PNPT1 gene and whose family has experienced firsthand the impact of their care model. Imagine Pediatrics is changing the game by providing 24/7, in-home, virtual-first medical care designed to keep kids safe at home—not in the hospital. He also has a rad foundation that we will chat about in a future episode: Raising Wheels Foundation If you are in Texas, Florida, and District of Columbia you have access to Imagine Pediatrics! We discuss: 💙 The problems with the current healthcare system for medically complex kids 💙 Why "safe days at home" should be the goal of pediatric care 💙 How Imagine Pediatrics partners with families rather than making them fight for care 💙 The economic case for home-based care and why insurance should want this model 💙 Walker’s legacy— how Taylor’s son inspired a movement to improve pediatric healthcare Kids Join the Fight 🔗 Listen now & share with families who need this

Tuesday, March 18, 2025 - Week 12 SYNGAP1 & Unmet Need Preface  Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience.  When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories.   This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you. SRD is slow moving, but suddenly changing and completely enervating. Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age:   Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros Medication changes can cause issues such at rage Long-term side effects, e.g., bone health issues, from chronic medication use Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.) Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait. Behavioral & ID: Our kids have enough physical ability to make behavior very challenging: Pain and behavior compounded by being non-verbal as they grow   Violence against family—bites and scratches   Violence against self, just sheer frustration Elopement & no sense of danger as a constant stress/burden  ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill. Family: Toll on caregivers & family is a heavy cost that is rarely counted:   Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family.  Exhaustion from the diagnostic journey, assessments, and caregiving. Marriages fall apart under the pressure. Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children. Siblings are the last to be noticed but first affected.   Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.   Parents will travel:   We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise. Example: the day I wrote this presentation I saw these 4 Facebook posts:  VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ  CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698    Episode 166 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Show NotesSRF’s CSO Kathryn Helde, PhD talks with Rainy about her son Joey - living in a group home, rock climbing, DIR therapy, genetic testing & reports, and advice on avoiding isolation. "He went to a group home. That took a long time to come to terms with emotionally. That's so much harder than anything else I've ever done."All episodes are available at ⁠cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠.Connect with Kathryn:[email protected]'s SRF bioConnect with ⁠⁠⁠⁠⁠⁠Rainy:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Rainy's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠YouTube - ⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠⁠Facebook - ⁠⁠⁠⁠⁠Hope SelahMay⁠⁠⁠⁠SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 028⁠⁠⁠⁠SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1-related disorders?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://cureSYNGAP1.org/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Pre-register for the 2025 Cure SYNGAP1 Conference in Atlanta⁠⁠⁠⁠⁠⁠⁠Donate to SRF⁠⁠⁠⁠⁠⁠⁠⁠Get Involved with SRF⁠⁠⁠⁠⁠⁠⁠Volunteer with SRF⁠⁠⁠⁠⁠SRF Fundraising Resource Page⁠⁠⁠⁠⁠⁠SRF's State Ambassador Program⁠⁠⁠⁠Advocate for SYNGAP1⁠⁠⁠⁠⁠⁠Wednesday Warriors⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Addressing the Symptoms of SYNGAP1⁠⁠⁠⁠SYNGAP1 Studies and Trials:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Studies⁠⁠⁠⁠⁠SYNGAP1 ProMMiS⁠⁠ – Prospective Multidisciplinary, Multisite Study for Clinical Excellence⁠⁠⁠Clinical Trials⁠⁠⁠⁠⁠⁠Frazier Eye Study⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Citizen Health⁠⁠⁠More Links:Heather Mefford, MD, PhD⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Sprint4Syngap 2025⁠⁠⁠ (⁠⁠donation page⁠⁠ and ⁠⁠resource guide⁠⁠)⁠⁠⁠⁠⁠⁠SRF Grants⁠⁠⁠⁠SRF Press Releases⁠⁠⁠⁠SRF's Medical Considerations Document⁠⁠Connect with SRF (@cureSYNGAP1):⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠w/ MikeSynGAP Research Fund ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Apple Podcast Channel⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Family Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): ⁠cureSYNGAP1.org/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417Comments: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 032 SYNGAP1 Stories, March 18, 2025#SYNGAP1StoriesJoey #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp32 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25 #RockClimbing #Hippotherapy #Therapy

Hola y bienvenidos de nuevo al Café Syngap1 Podcast! Hoy tenemos una historia centrada en la lucha y amor incondicional; Jaime nos comparte su experiencia como cuidador exponiendo las dificultades y resiliencia del día a día.Bio de ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Merlina⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Información sobre SRF & SYNGAP1:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠⁠Donaciones:⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://syngap.fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Comentarios: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Conéctate con SRF (@curesyngap1):⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con MikeEpisodio 26 Café SYNGAP1, Marzo 13, 2025#CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Kai #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP

Please give my video a watch and SAVE MEDICAID!   Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing.   For over 30 years, I’ve been advocating at the state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work together to protect this vital resource. Your support could make a significant difference.   To reach out to your Congressional Member consider these two resources: - Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate  - ARC of US: https://p2a.co/lRPDZ5C  What Medicaid means to your family: https://action.thearc.org/3jLx90b 

Tuesday, March 11, 2025 - Week 11   CHCO Press Release https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org   SYNGAP1 ProMMiS #SynGAProMMiS https://curesyngap1.org/resources/studies/syngap1-prommis/ Need your Voice on Unmet Need Please contact me with stories and permission to share. Mike@    PubMed is at 11 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   Willsey Lab on Gut Motility, congratulations to Kate McCluskey https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf   Citizen Health Data in there! https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3vCitizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen   Family Conf Video on Drug Repurposing https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl.   Thank you Lindsay.   Unravel BioSciences Discussion/Podcast Short: https://www.youtube.com/watch?v=xcB8pv2lKRI Long: https://www.youtube.com/watch?v=CYb0ghaRKm8  LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl   Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3   April 24-25th Nashville, TN June 14-15th Westminster, CO June 18-21th St. Louis, MO June 27-28th Phoenix, AZ July 10-12th Boston, MA July 18-19th Denver, CO July 19-20th Westminster, CO July 19-20th Windsor Locks, CT Sept/Oct TBD Philadelphia, PA Dec 4-5th Atlanta, GA   Share glowing reviews of SRF on Great Non-Profits! https://www.cureSYNGAP1.org/GNP   ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled.  Time to go for ICD-11s. https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html DoD Funding https://umdf.org/cdmrp_cuts_action/ #MEDICAIDCANTWAIT https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/   Episode 164 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Service dogs are often associated with guiding the blind or assisting with mobility, but their impact goes far beyond traditional roles. In this episode, I’m joined by Sue Bresnahan, a pediatric nurse and rare mom, whose son has CACNA1C-related disorder (Timothy Syndrome). When they welcomed Yammy, his service dog, into their family, everything changed. Yammy didn’t just provide companionship—he unlocked a level of independence and confidence that Sue never imagined possible for her son. Sue shares their journey, the process of getting a service dog, and why families of kids with disabilities should consider this life-changing support. If you’ve ever wondered how a service dog could help a child beyond the traditional reasons, this episode is for you. In This Episode, We Discuss: ✔️ Sue’s journey as a rare mom and navigating CACNA1C-related disorder (Timothy Syndrome) ✔️ The unexpected ways service dogs can support kids with disabilities ✔️ How Yammy transformed her son’s independence and confidence ✔️ The process of getting and training a service dog ✔️ What families should know before pursuing a service dog ✔️ Overcoming challenges and misconceptions about service dogs ✔️ Advice for families considering a service dog Resources & Links: 📌 Learn more about CACNA1C-related disorder (Timothy Syndrome) 📌 Service Dog Organizations & Resources - ECAD 📌 Connect with Sue Bresnahan - Instagram 📌 Want to support Once Upon a Gene? Leave a review on Apple Podcasts & share this episode!

Friday, February 28, 2025 - Week 9   Hope vs. Despair?   Despair: NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share  FDA Staffing Cutshttps://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/ Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612 President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/ DOGE head who also doesn’t care https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/   Hope: Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Community https://curesyngap1.org/team/ Global: https://syngapglobal.net/ ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes    Disability is Political   Take it or Advocate?   Taking it does not work.     Advocate: SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/ ELF https://everylifefoundation.org/ Research America https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/  Alliance for a Stronger FDA https://www.strengthenfda.org/  Modern Medicaid Alliance https://modernmedicaid.org/about-the-alliance/    Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391    Responsibility to those who cannot or will not be here.  10% of Americans.  10k diseases, all chronic.  Childhood.  Do not have FDA approved treatments, no cures.  Staggering Financial Costs aka Toxicities.  Efforts to date have allowed for interventions that may still matter.  We have invested so much.     Episode 163 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look. We also dive into the future of genetic testing, what needs to change for sequencing to become a routine part of medical care, and how families and advocates can help drive progress forward. This episode is all about hope, science, and the relentless pursuit of answers. Happy Rare Disease Day, and thank you for being part of this incredible community! Topics Covered: ✅ What is long-read sequencing, and how is it different from traditional genetic testing? ✅ How PacBio’s technology is solving rare disease mysteries faster and more accurately. ✅ Why some families don’t get answers from whole genome sequencing—and why they should consider trying again. ✅ The biggest barriers to making genetic testing more accessible and routine in rare disease care. ✅ How long-read sequencing could help lead to future treatments, not just diagnoses. ✅ What the next five years of genomic sequencing could look like. ✅ How rare disease families and advocacy groups can collaborate with PacBio to accelerate discoveries. Resources & Links: 🔗 Learn more about PacBio and long-read sequencing: https://www.pacb.com/ 🔗 Follow PacBio on X: @PacBio 🔗 More about Rare Disease Day: www.rarediseaseday.org 💬 Join the Conversation! Have you been on a diagnostic odyssey? Have questions about genetic testing? Share your thoughts and experiences with me on Instagram 🎧 Listen & Subscribe: Don’t forget to subscribe so you never miss an episode! If you love the show, leave a review—it helps more rare disease families find these conversations. 💙

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162 Tuesday, February 25, 2025 - Week 9   ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS    SPRINT4SYNGAP - April 26, 2025 Webinar: cureSYNGAP1.org/S4S25 Guide: cureSYNGAP1.org/S4SGuide   LEVERAGE ON OUR GRANTS #Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE   STUDY OF THE WEEK - Email [email protected] Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/    Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    IMPACT REPORT NL43 cureSYNGAP1.org/NL43    ONLINE DID YOU KNOW We have a calendar now! https://curesyngap1.org/calendar/ Brochure is updated: cureSYNGAP1.org/Brochure  YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2    COMPANY OF THE WEEK - Stoke & Biogen! STK ($0.45Bn) partners with BIIB ($20.5Bn) https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and   #SpecialNeedsTRAVEL e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories  Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V   RESEARCH UPDATE There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 10 (Coller included) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290   VOLUNTEER SPOTLIGHT Toby and John Brimsek are tireless.  Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full   SOCIAL MATTERS - 3,937 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1.28k YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11.5k Twitter https://twitter.com/cureSYNGAP1 - 46.6k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 162 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you’ve ever felt like you don’t even know where to start when it comes to your own health, this episode is for you. I’m talking with Fraser Bridgeman, a fellow CTNNB1 mom and a functional integrative health practitioner, about the small but powerful changes we can make to support our own well-being. Fraser understands the unique challenges rare disease caregivers face—chronic stress, poor sleep, inflammation, and running on adrenaline for years at a time. She’s sharing practical, realistic ways to prioritize your health so you can show up for your child without running yourself into the ground. In this episode, we discuss: ✨ The most common health issues caregivers face (and how stress affects the gut, sleep, and hormones) ✨ How to make small, sustainable changes—even when you’re overwhelmed ✨ Easy food swaps to support energy, gut health, and stress resilience ✨ Practical ways to improve sleep and manage cortisol levels ✨ How movement, breathwork, and mindfulness can help regulate a taxed nervous system ✨ The mindset shift that will help you prioritize your own health without guilt Listen now and take the first step toward caring for yourself—because you matter, too. Follow Fraser on Instagram Fraser's Integrative Health Website

Show NotesWe're back with a double interview. Chelsey Navarro, SRF's Science Writer, and Anthony Navarro, SRF's Resource Mobilization Director in charge of fundraising, talk with Rainy about grieving after the diagnosis, finding SRF, volunteering, and reaching out to others to expand your community of support. All episodes are available at cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠.Connect with Chelsey and Anthony:[email protected]⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠Chelsey's SRF bio⁠⁠⁠⁠Anthony's SRF bio⁠⁠LabNomads⁠ and ⁠Traveling with Special Needs Blogs⁠Connect with ⁠⁠⁠⁠⁠⁠Rainy:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Rainy's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@Hope4theCure⁠⁠⁠YouTube - ⁠⁠⁠⁠@Hope4theCure⁠⁠⁠⁠Facebook - ⁠⁠⁠⁠Hope SelahMay⁠⁠⁠SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 028⁠⁠⁠SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1-related disorders?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠⁠⁠https://cureSYNGAP1.org/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Pre-register for the 2025 Cure SYNGAP1 Conference in Atlanta⁠⁠⁠⁠⁠Donate to SRF⁠⁠⁠⁠⁠⁠Get Involved with SRF⁠⁠⁠⁠⁠Volunteer with SRF⁠⁠⁠SRF Fundraising Resource Page⁠⁠⁠⁠SRF's State Ambassador Program⁠⁠⁠⁠⁠⁠⁠⁠Wednesday Warriors⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Addressing the Symptoms of SYNGAP1⁠⁠⁠SYNGAP1 Studies and Trials:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 Studies⁠⁠⁠SYNGAP1 ProMMiS⁠ – Prospective Multidisciplinary, Multisite Study for Clinical Excellence⁠⁠Clinical Trials⁠⁠⁠⁠Frazier Eye Study⁠⁠⁠⁠⁠⁠⁠Citizen Health⁠⁠Adults with SYNGAP1 Study⁠Hispanic Phenotype Study with CHOPMore Links:⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Sprint4Syngap 2025⁠⁠ (⁠donation page⁠ and ⁠resource guide⁠)⁠⁠⁠SRF Grants⁠⁠SRF Press Releases⁠⁠SRF's Medical Considerations Document⁠TSA Cares⁠⁠Becker's Muscular Dystrophy⁠Connect with SRF (@cureSYNGAP1):⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠w/ MikeSynGAP Research Fund ⁠⁠⁠⁠⁠⁠⁠⁠⁠Apple Podcast Channel⁠⁠⁠⁠⁠⁠⁠⁠⁠Family Zoom Meeting (bi-weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417Comments: ⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 031 SYNGAP1 Stories, February 18, 2025#SYNGAP1StoriesEmmy #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp31 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25

Tuesday, February 11, 2025 - Week 7   IMPACT REPORT IS OUT! Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/ Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/   STUDIES OF THE WEEK - BEACON DREEM https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/   COLORADO CHILDREN'S HOSPITAL - April & May https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/   STANFORD ARTICLE ON SYNGAP1 SEIZURES https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/  Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175  LinkedIn: https://www.linkedin.com/posts/curesyngap1_how-neural-insulation-can-amplify-epileptic-activity-7295282288462860288-mqke   Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02cKdrA8FJJopumKZuQo55JafeCFjEPe5Kg2V1QpmJmJbqwNZ52Yfie4AfyeaZRAvul    RESEARCH UPDATE There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 8 (but reall 9 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability https://link.springer.com/article/10.1007/s10803-023-06162-9 ADVOCACY SHOUT OUT Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/   Learn from the greats: April 8 & 9 at St. Jude online https://stjudeptni.activehosted.com/index.php?action=social&chash=28dd2c7955ce926456240b2ff0100bde.111    IN THE NEWS - Terry P on Kelly Clarkson Show https://www.youtube.com/watch?v=yLcm0KcgZyc   FUNDRAISING MATTERS Aaron: https://giving.classy.org/campaign/661441/donate You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,925 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,512 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 161 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Tuesday, February 4, 2025 - Week 6   CONVO - Parent of 18 year old Travel now. Get meds under control fast Don’t do this alone Don’t give up on the adults Find doctors who want to learn and think, not dictate.   STUDIES OF THE WEEK - FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Don’t underestimate this tool, please take part in this study.   Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    ADVOCACY SHOUT OUT https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios   REGULATORY UPDATE - Feb 4 at 4PM EST. https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy   EF on EPILEPSYInstagram - Facebook - LinkedIn - X   RESEARCH UPDATE There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 7 (but really 8 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded   James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/ JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/   VOLUNTEER SPOTLIGHT Aaron Harding is tireless  Donate: https://giving.classy.org/campaign/661441/donate Video - https://youtu.be/7LprhkhyU5I   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,550 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 160 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

In this powerful episode of Once Upon a Gene, I sit down with James Griffin, author of Breaking Silence: Living With Sickle Cell Anemia. Diagnosed at just two years old, James spent much of his life keeping his condition a secret, fearing how others would perceive him. He faced excruciating pain, hospitalizations, and the daily challenges of living with a chronic illness—all while navigating school, friendships, and a world that often didn’t understand his struggles. Now, as an advocate and author, James is using his voice to raise awareness, empower others with sickle cell disease, and push for better care, research, and understanding. In this conversation, he shares what it was like growing up with sickle cell, the language he’s learned to use in emergency rooms to be taken seriously, and how he found the courage to finally open up about his diagnosis. Whether you or a loved one are affected by sickle cell disease, or you simply want to hear an inspiring story about resilience and advocacy, this episode is for you.

En este episodio nos acompaña Antonia Monsálvez desde Chile, nos platica sobre su hija Lina quien fue diagnosticada con SYNGAP1 en el 2020. Habla de su historia de valentía, y ganas de darlo todo por el bienestar de su pequeña. Bio de ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Merlina⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Información sobre SRF & SYNGAP1: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠⁠ Donaciones:⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://syngap.fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Comentarios: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Conéctate con SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con Mike Episodio 25 Café SYNGAP1, Enero 29, 2025 #CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Lina #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP

Tuesday, January 28, 2025 - Week 5   STUDIES OF THE WEEK - ROCHESTER 3 We need 3 more 0-2 Year olds. https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/   NYU - CureSYNGAP1.org/NYU https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/   Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    STUDY HUDDLE on THURSDAY! 1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU   COMPANY OF THE WEEK - Minovacca SRF put Neuro on their radar and now they are building a company.   https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery   Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/   REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html   PATIENT ENGAGEMENT IMPROVES OUTCOMES https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/   RESEARCH UPDATE There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 4 (but really 5 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Huganir’s latest: https://pubmed.ncbi.nlm.nih.gov/39868300/ Coller with the Poly-A is out: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531%2825%2900007-1 Correction on China census paper, it was a review, we will not up the census. Note: Coller began working on SYNGAP1 with SRF support in 2022!  See https://www.eurekalert.org/news-releases/966873   VOLUNTEER SPOTLIGHT Deanna N. Rorie nee Farley.  Longest running SRF Volunteer ever.  Big thanks for all the Warriors.   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,565 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 159 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie’s Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation of a foundation dedicated to empowering families, fostering connections, and encouraging others to find strength in the face of challenges. We explore how their mission encourages fighting for meaningful friendships, dreaming new dreams, and discovering untapped capacity for love and purpose. This conversation will leave you uplifted, motivated, and ready to celebrate the light that shines in every rare journey. Highlights: The heartfelt origin story of Lottie’s Light Foundation. Insights into Lottie’s personality, resilience, and the joy she brings to those around her. How the foundation inspires families to fight for friendships and redefine their dreams. Samantha and Wesley’s advice on finding your capacity in the hardest moments. Tips for building friendships and community in the rare disease world. A reminder of the power of community and the importance of showing up for Rare Disease Day. Mentioned in This Episode: Lottie’s Light Foundation Website Rare Disease Day 2025 in San Diego – Event details coming soon! Tips for building friendships and community in the rare disease world. Call to Action: Let’s spread the light! Share this episode with your friends and community to celebrate the resilience, strength, and brilliance of the rare disease journey. If you’re in San Diego or feeling adventurous, join us for Rare Disease Day 2025! Details coming soon. As always, don’t forget to rate, review, and subscribe to Once Upon a Gene. Your support helps bring these powerful stories to more ears!

In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results. Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options. Whether you’re just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt advice. Join us as we learn how to take charge of our genetic health and family-planning decisions with compassion and confidence. Finally, don’t forget about the Once Upon a Gene Revival—an uplifting event designed to support, educate, and connect rare disease caregivers. Registration is open now on my website. Links: JScreen Genetic Testing Instagram Once Upon A Gene Revival

RESEARCH UPDATE There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 2 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded   Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246! Check out these social posts on our https://cureSYNGAP1.org/SRFPaper  https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ https://x.com/cureSYNGAP1/status/1879272983077781804 https://fb.watch/x6KdWuLSA8/   STUDIES AND TRIALS ARE HAPPENING NOWhttps://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $359,280 Syngap.Fund/C2C  FUNDRAISE https://syngap.fund/FR  #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025   VOLUNTEER SPOTLIGHT Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/   CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 1,260 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,906 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,670 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/  - 464 TikTok https://www.tiktok.com/@curesyngap1   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources  Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 158 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Friday, January 10, 2025 NEWS Census = 1,530! https://cureSYNGAP1.org/Census https://cureSYNGAP1.org/NL42 All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24 Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/   AES JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no longer one day, but this is soon and they need to get ready. Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/   STUDIES AND TRIALS ARE HAPPENING NOWRochester, Eye Tracking, Sleep.  Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up…https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $338,280 Syngap.Fund/C2C  FUNDRAISE https://syngap.fund/FR  Go Nikolas! $3,780  https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025   VOLUNTEER SPOTLIGHT:  Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/   RESEARCH UPDATE There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 0 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded   CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25    VOLUNTEER  https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 1,250 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,899 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,688 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/  - 464 TikTok https://www.tiktok.com/@curesyngap1   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 157 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact of these efforts on the future of rare disease therapeutics and how families can play an active role in advancing research. Highlights: Dr. Eskandari’s Path to Pediatric Neurosurgery The Inspiration Behind the Biorepository Project What Are Biorepositories and Why They Matter Advocating for Residual Sample Collection Overcoming Challenges in Setting Up a Biorepository Data Sharing and Expanding Access Scaling This Initiative to Other Institutions Links: Combined Brain The Medical University of South Carolina

Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on their family’s advocacy here: KCAL Rare Disease Coverage

Show Notes Zoe Bailey, SRF's Volunteer Coordinator and State Ambassador and Advocacy Lead (California), talks about grieving after the diagnosis, finding SRF, volunteering, and the recent SYNGAP1 Conference in LA. She chats about the importance of self-care as well as Kaia's progress since starting a repurposed drug (Tanganil). All episodes are available at ⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/Stories⁠⁠⁠⁠⁠⁠⁠⁠. ⁠Kaia's Warrior Story⁠ Connect with Zoe: ⁠[email protected]⁠ ⁠Zoe's SRF bio⁠ Zoe's Instagram Zoe's Facebook Connect with ⁠⁠⁠⁠⁠⁠Rainy: ⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Rainy's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Instagram - ⁠⁠⁠⁠⁠@Hope4theCure⁠ YouTube - ⁠⁠@Hope4theCure⁠⁠ Facebook - ⁠⁠Hope SelahMay⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 028⁠ SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠⁠⁠https://curesyngap1.org/⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠⁠⁠⁠ Pre-register for the 2025 Cure SYNGAP1 Conference in Atlanta ⁠Donate to SRF⁠ ⁠Get Involved with SRF⁠ Volunteer with SRF ⁠SRF's State Ambassador Program⁠ ⁠⁠⁠Wednesday Warriors⁠⁠⁠ ⁠⁠⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠Addressing the Symptoms of SYNGAP1⁠ Read more about the repurposed drug Tanganil Sprint4Syngap 2025 Studies Clinical Trials (Including Longboard's DEEp OCEAN Trial) Frazier Eye Study CHOP NHS CHCO NHS Citizen Health Adults with SYNGAP1 Study Hispanic Phenotype Study with CHOP Science Day 2024 videos CA IHSS (In-Home Supportive Services) Dr. Chow's Latest SRF Grant Information Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠YouTube⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠w/ Mike SynGAP Research Fund ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Apple Podcast Channel⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): cureSYNGAP1.org/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠ Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Episode 030 SYNGAP1 Stories, December 31, 2024 #SYNGAP1StoriesKaia #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp30 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25